NID1 (Nidogen 1)
Extracellular matrix protein involved in basement membrane assembly and cell adhesion
Gene Information Card
| Symbol | NID1 |
|---|---|
| Full Name | nidogen 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | 4811 ncbi.nlm.nih.gov/gene/4811 |
| Ensembl ID | ENSG00000116918 |
| UniProt ID | P14543 |
| OMIM ID | 131390 |
| HGNC ID | 7823 |
| Aliases | entactin |
Description
NID1 (nidogen 1, also known as entactin) encodes a member of the nidogen family of basement membrane glycoproteins. The protein forms a dumbbell-shaped structure that binds to laminin, collagen IV, and perlecan, playing a critical role in basement membrane assembly and stabilization. NID1 is widely expressed in various tissues and is involved in cell adhesion, migration, and differentiation. Mutations and altered expression of NID1 have been associated with kidney diseases, cancer progression, and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kidney disease (e.g., nephrotic syndrome) | Disruption of basement membrane integrity due to NID1 mutations | ClinVar |
| Cancer (e.g., breast, ovarian, colorectal) | Altered NID1 expression promotes tumor invasion and metastasis via ECM remodeling | COSMIC, literature |
| Developmental disorders | NID1 deficiency impairs basement membrane formation in organogenesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Lung | 8.3 | Medium |
| Breast | 6.7 | Medium |
| Colon | 5.9 | Medium |
| Ovary | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.1 | High expression |
| MCF7 | 8.9 | Medium expression |
| A549 | 7.3 | Medium expression |
| HCT116 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with nephrotic syndrome |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Impaired laminin binding |
| c.2345_2346insA | Frameshift | <0.1% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent nidogen 1 protein, disrupting basement membrane integrity.
Gain of Function (GOF)
Not reported for NID1.
Dominant Negative (DN)
Missense mutations that interfere with protein-protein interactions in the extracellular matrix.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Nidogen 1 (entactin) is a 150 kDa glycoprotein that forms a critical component of the basement membrane. It contains three globular domains (G1, G2, G3) connected by flexible rod-like segments. The G2 domain binds to collagen IV and perlecan, while the G3 domain binds to laminin, facilitating the assembly of the basement membrane scaffold. Nidogen 1 also interacts with integrins to mediate cell adhesion and signaling. Post-translational modifications include N-glycosylation and sulfation, which modulate its stability and interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NID1 Knockout HEK293 Cell Line | EDJ-KQ5342 | Human | 4811 | Details Get a Quote |
| NID1 Knockout A-549 Cell Line | EDJ-KQ28444 | Human | 4811 | Details Get a Quote |
| NID1 Knockout HeLa Cell Line | EDJ-KQ28445 | Human | 4811 | Details Get a Quote |
| NID1 Knockout HCT 116 Cell Line | EDJ-KQ70952 | Human | 4811 | Details Get a Quote |
